Infantile facioscapulohumeral muscular dystrophy: new observations

Abstract

Clinical, electrodiagnostic, and biopsy findings in a family with infantile facioscapulohumeral muscular dystrophy are reported. Four of eight family members having the disorder, all with onset in infancy, developed severe weakness leading to death in adolescence. The clinical course and prognosis of infantile facioscapulohumeral muscular dystrophy may, therefore, be as devastating as that of Duchenne muscular dystrophy. The unusual infantile presentation and high mortality in our affected family members suggest that the gene coding for this disorder may be different from that responsible for conventional facioscapulohumeral muscular dystrophy.

Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

“…3 However, it has been suggested that FSHD cases with early onset facial weakness may have severe neuromuscular disability and premature demise. 1 One question that arises, in relation to our patient, is whether FSHD was responsible for the Mö-bius syndrome and ophthalmoparesis, or whether there were two separate processes occurring simultaneously in this child. The demonstration of a D4Z4 repeat of 30 kb in 4qA (pathogenic allele) supports the belief that FSHD was the underlying etiology.…”

“…2,11 Whereas FSHD often presents as a mild, slowly progressive myopathy, 10 there are also families with severely affected infants who have one asymptomatic or minimally affected parent. 1 In some familial cases, although the size of the inherited fragment remains constant, FSHD may be more severe in offspring when parents carry the deletion in a somatic mosaic state. 11 Remarkably, detailed PFGE analysis showed that the minimally affected father was not mosaic for the FSHD allele.…”

Locomotor problems in infantile facioscapulohumeral muscular dystrophy: Retrospective study of 9 patients

“…Death due to pulmonary failure has been reported in a S-year-old child with IFSH MD (McGarry et ai. 1983), in 4 affected family members each of whom died during the teenage years (Bailey et al 1986), and in a 13-year-old (Yasukohchi et al 1988).…”

“…Infantile facioscapulohumeral muscular dystrophy (IFSH MD) is characterized by (1) facial diplegia; (2) muscle weakness leading to winging of the scapulae, marked lumbar lordosis, and foot drop; and (3) sensorineural hearing loss (Carroll and Brooke 1979, Korf et al 1985, Bailey et al 1986. Occasionally, there is visual impairment due to retinal telangiectasia (Coats' disease; Small 1968, Taylor et al 1982, Wulff et al 1982.…”

Facial electromyography in newborn and young infants with congenital facial weakness

“…An infantile form of facioscapulohumeral muscular dystrophy (FSH) with early facial diplegia has been described. [46][47][48] The facial diplegia is obvious in the first year of life: 49 the face is expressionless, patients have a peculiar horizontal smile, and they may be unable to close eyes and mouth fully. In some cases, mothers noticed poor sucking at birth and lack of facial expression.…”